Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency

Molecular Genetics and Metabolism - Tập 108 - Trang 232-240 - 2013
Beatriz Puisac1, María Esperanza Teresa-Rodrigo1, María Arnedo1, María Concepción Gil-Rodríguez1, Celia Pérez-Cerdá2, Antonia Ribes3, Ángeles Pié1, Gloria Bueno1, Paulino Gómez-Puertas4,5, Juan Pié1
1Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, E-50009 Zaragoza, Spain
2Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, Spain
3Sección de Errores Congénitos del Metabolismo (IBC), Servicio de Bioquímica y Genética Molecular, Hospital Clínic, IDIBAPS, Barcelona, Spain
4Molecular Modelling Group, Center of Molecular Biology “Severo Ochoa” (CSIC UAM) Cantoblanco, Madrid, Spain
5Biomol Informatics SL, Cantoblanco, Madrid, Spain

Tài liệu tham khảo

Schutgens, 1979, Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutarylcoenzyme A lyase, J. Pediatr., 1, 89, 10.1016/S0022-3476(79)80364-9 Wysocki, 1986, 3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review, J. Inherit. Metab. Dis., 9, 225, 10.1007/BF01799652 Gibson, 1988, 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients, Eur. J. Pediatr., 148, 180, 10.1007/BF00441397 Arnedo, 2012, Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol, J. Lipid Res., 53, 2046, 10.1194/jlr.M025700 Casals, 2003, Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase, J. Biol. Chem., 278, 29016, 10.1074/jbc.M304276200 Fu, 2006, Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria, J. Biol. Chem., 281, 7526, 10.1074/jbc.M506880200 Wang, 1993, 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes, Mamm. Genome, 4, 382, 10.1007/BF00360589 Puisac, 2011, Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway, Mol. Biol. Rep., 39, 4777, 10.1007/s11033-011-1270-8 Pié, 2007, Molecular genetics of HMG-CoA lyase deficiency, Mol. Genet. Metab., 92, 198, 10.1016/j.ymgme.2007.06.020 Menao, 2009, Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria, Hum. Mutat., 30, E520, 10.1002/humu.20966 Pié, 1997, A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, Biochem. J., 323, 329, 10.1042/bj3230329 Casale, 1998, A nonsense mutation in the exon 2 of the 3-hydroxy-3methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients, Arch. Biochem. Biophys., 349, 129, 10.1006/abbi.1997.0456 Casals, 1997, A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria, J. Lipid Res., 38, 2303, 10.1016/S0022-2275(20)34944-0 Maquat, 2004, Nonsense-mediated mRNA decay: splicing, translation and mRNPdynamics, Nat. Rev. Mol. Cell Biol., 5, 89, 10.1038/nrm1310 Mendell, 2002, Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense mRNA transcripts, Science, 298, 419, 10.1126/science.1074428 Wang, 2002, Alternatively spliced TCR mRNA induced by disruption of reading frame, Science, 297, 108, 10.1126/science.1069757 Shiga, 1997, Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy, J. Clin. Invest., 100, 2204, 10.1172/JCI119757 Bühler, 2005, Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open reading frame, RNA, 11, 139, 10.1261/rna.7183805 Sambrook, 2001 Vandenbroucke, 2001, Quantification of splicing variants using real-time PCR, Nucleic Acids Res., 29, E68, 10.1093/nar/29.13.e68 Cardoso, 2004, The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency, Mol. Genet. Metab., 82, 334, 10.1016/j.ymgme.2004.06.003 Puisac, 2005, Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL, Biophys. Chem., 115, 241, 10.1016/j.bpc.2004.12.031 Vargas, 2007, Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America, J. Inherit. Metab. Dis., 10.1007/s10545-007-0756-y Chang, 2007, Alternatively spliced T-cell receptor transcripts are up-regulated in response to disruption of either splicing elements or reading frame, J. Biol. Chem., 282, 29738, 10.1074/jbc.M704372200 Tran, 2006, Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene, J. Med. Genet., 43, 924, 10.1136/jmg.2006.042317 Faustino, 2003, Pre-mRNA splicing and human disease, Genes Dev., 17, 419, 10.1101/gad.1048803 Dietz, 1994, Maintenance of an open reading frame as an additional level of scrutiny during splice site selection, Nat. Genet., 8, 183, 10.1038/ng1094-183 Coulter, 1997, Identification of a new class of exonic splicing enhancers by in vivo selection, Mol. Cell. Biol., 17, 2143, 10.1128/MCB.17.4.2143 Wang, 2006, General and specific functions of exonic splicing silencers in splicing control, Mol. Cell, 23, 61, 10.1016/j.molcel.2006.05.018 Wang, 2004, Systematic identification and analysis of exonic splicing silencers, Cell, 119, 831, 10.1016/j.cell.2004.11.010 Baralle, 2005, Splicing in action: assessing disease causing sequence changes, J. Med. Genet., 42, 737, 10.1136/jmg.2004.029538 Nagy, 1998, A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance, Trends Biochem. Sci., 23, 198, 10.1016/S0968-0004(98)01208-0 Lewis, 2003, Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans, Proc. Natl. Acad. Sci. U.S.A., 100, 189, 10.1073/pnas.0136770100 Silva, 2009, The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?, FEBS Lett., 583, 499, 10.1016/j.febslet.2008.12.058 D'Souza, 2000, Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion, J. Biol. Chem., 275, 17700, 10.1074/jbc.M909470199 Nissim-Rafinia, 2005, The splicing machinery is a genetic modifier of disease severity, Trends Genet., 21, 480, 10.1016/j.tig.2005.07.005